CSRP3 variants in DCM cohorts

The table below lists the 4 rare (MAF<0.0001 in ExAC) protein-altering CSRP3 variants identified in a cohort of 945 DCM patients (355 patients from OMGL, 590 patients from LMM). When this rare variant frequency of 0.00423 is compared with a background population rate of 0.00324, there is a case excess of 0.00099, although this is not statistically significant for protein-altering CSRP3 variants in DCM (p=0.5559).

Variant Type:      All protein-altering variants     -     Truncating variants     -     Non-Truncating variants
Source:      Combined (OMGL + LMM)     -     OMGL     -     LMM

No. Variant (CDS) Variant (Protein) Variant Type Cases (945)OMGL classLMM class ExAC frequency
1. c.148G>A p.A50Tmissense 1VUS (1)0.000041
2. c.136A>C p.S46Rmissense 1Likely Pathogenic (1)0.000033
3. c.509-3_509-2delCA essential splice site 1VUS (1)0.000024
4. c.535A>G p.T179Amissense 1VUS (1)0.000016


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